Canonical Allele Identifier: CA913188913

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 628451
• ClinVar RCV Id: RCV000772920 ; RCV002536639
• dbSNP Id: rs1568203059

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51047316dup , CM000680.2:g.51047316dup	GRCh38
NC_000018.9:g.48573686dup , CM000680.1:g.48573686dup	GRCh37
NC_000018.8:g.46827684dup	NCBI36
NG_013013.2:g.84277dup , LRG_318:g.84277dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.249+21dup	ENSP00000465878.2:n.249+21dup
ENST00000589076.6:c.249+21dup	ENSP00000466934.2:n.249+21dup
ENST00000589941.2:c.249+21dup	ENSP00000465874.2:n.249+21dup
ENST00000590061.2:c.249+21dup	ENSP00000464772.2:n.249+21dup
ENST00000593223.2:c.249+21dup	ENSP00000466118.2:n.249+21dup
ENST00000611848.2:c.249+21dup	ENSP00000478613.2:n.249+21dup
ENST00000342988.8:c.249+21dup MANE Select	ENSP00000341551.3:n.249+21dup
ENST00000342988.7:c.249+21dup	ENSP00000341551.3:n.249+21dup
ENST00000398417.6:c.249+21dup	ENSP00000381452.1:n.249+21dup
ENST00000588745.5:c.249+21dup	ENSP00000464901.1:n.249+21dup
ENST00000588860.5:c.249+21dup	ENSP00000465878.1:n.249+21dup
ENST00000589076.5:c.249+21dup	ENSP00000466934.1:n.249+21dup
ENST00000589706.1:n.117+21dup
ENST00000589941.1:c.249+21dup	ENSP00000465874.1:n.249+21dup
ENST00000590061.1:c.249+21dup	ENSP00000464772.1:n.249+21dup
ENST00000590722.2:c.*272+21dup	ENSP00000465737.1:n.*272+21dup
ENST00000591914.5:c.249+21dup	ENSP00000466941.1:n.249+21dup
ENST00000592186.5:c.249+21dup	ENSP00000468611.1:n.249+21dup
ENST00000592911.5:n.28-1370dup
NM_005359.5:c.249+21dup , LRG_318t1:c.249+21dup	NP_005350.1:n.249+21dup
NM_005359.6:c.249+21dup MANE Select	NP_005350.1:n.249+21dup